John Porter from the National Institutes of Health likes to start talks by noting, “It’s a great time to be a mouse with a neuromuscular disease.” Exciting research results are regularly reported, where a treatment appears to cure one neuromuscular disease or another in a mouse — yet there are few treatments available today for people with any of these diseases, and only a few treatments in human...

When a medical emergency strikes — and the patient is a person with a neuromuscular disease — it’s not just getting to the emergency room quickly that’s critical. It’s also critical to ensure the ER staff understands the patient’s special needs caused by muscle disease.

Researchers report making a 10-fold improvement in a technology that permanently repairs flawed dystrophin genes, giving a real boost to this therapeutic strategy

posted on June 29, 2010 - 9:40am

A new generation of molecules — peptide nucleic acid single-stranded oligodeoxynucleotides or PNA-ssODNs — can help cells permanently repair errors in the dystrophin gene, fixing the underlying cause of Duchenne muscular dystrophy (DMD), researchers report.
The research group, headed by MDA grantee, Carmen Bertoni, at the University of California Los Angeles (UCLA), published its findings online...

Early results show that when AVI4658 is delivered system-wide through the bloodstreams of boys with DMD, it’s safe and increases dystrophin production.

posted on December 23, 2009 - 3:07pm

Interim results from a human clinical trial of the exon-skipping compound AVI4658 in boys with Duchenne muscular dystrophy (DMD) show that when the compound is delivered to the whole body via the bloodstream — rather than simply injected into a foot muscle as in a previous trial — it appears safe and leads to production of the missing muscle protein dystrophin.

A second ALS lithium trial is ended after an interim analysis revealed no benefit and possible toxicity

posted on November 6, 2009 - 10:00pm

An Italian trial to test the effects of lithium carbonate in amyotrophic lateral sclerosis (ALS) has ended before its originally scheduled completion date because of an unusually high number of dropouts, lack of demonstrated benefit, and concerns about the drug's possible toxicity.